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Kambouris, Marios
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1

The genetic landscape of autism spectrum disorder in the Mi..:

Al-Sarraj, Yasser ; Taha, Rowaida Z. ; Al-Dous, Eman...
Frontiers in Genetics.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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2

Pathogenic variants in KMT2C result in a neurodevelopmental..:

Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor...
The American Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1016/..
 
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3

Genomic architecture of autism spectrum disorder in Qatar: ..:

Abdi, Mona ; Aliyev, Elbay ; Trost, Brett...
Genome Medicine.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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4

Investigation of Genetic Causes in Patients with Congenital..:

Okashah, Sarah ; Vasudeva, Dhanya ; El Jerbi, Aya...
Genes.  13 (2022)  8 - p. 1369 , 2022
Link: https://doi.org/10.3390/..
 
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5

A Novel Mutation of VPS33B Gene Associated with Incomplete ..:

Agakidou, Eleni ; Agakidis, Charalampos ; Kambouris, Marios...
Case Reports in Genetics.  2020 (2020)  - p. 1-8 , 2020
Link: https://doi.org/10.1155/..
 
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6

Multiplex epithelium dysfunction due to CLDN10 mutation: th..:

Hadj-Rabia, Smail ; Brideau, Gaelle ; Al-Sarraj, Yasser...
Genetics in Medicine.  20 (2018)  2 - p. 190-201 , 2018
Link: https://doi.org/10.1038/..
 
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7

A chromosomal microdeletion of 15q in a female patient with..:

Ahram, Dina F. ; Al‐Sarraj, Yasser ; Taha, Rowaida Z....
Clinical Case Reports.  5 (2017)  6 - p. 1013-1017 , 2017
Link: https://doi.org/10.1002/..
 
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8

Biallelic SCN10A mutations in neuromuscular disease and epi..:

Kambouris, Marios ; Thevenon, Julien ; Soldatos, Ariane...
Annals of Clinical and Translational Neurology.  4 (2016)  1 - p. 26-35 , 2016
Link: https://doi.org/10.1002/..
 
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9

Mosaic partial pericentromeric trisomy 8 and maternal unipa..:

Ahram, Dina F. ; Stambouli, Danae ; Syrogianni, Aleksandra...
Clinical Case Reports.  4 (2016)  12 - p. 1125-1131 , 2016
Link: https://doi.org/10.1002/..
 
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10

Multiple Coronary Artery Microfistulas in a Girl with Kleef..:

Vargiami, Euthymia ; Ververi, Athina ; Al-Mutawa, Hamda...
Case Reports in Genetics.  2016 (2016)  - p. 1-5 , 2016
Link: https://doi.org/10.1155/..
 
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11

Two hits in one: whole genome sequencing unveils LIG4 syndr..:

Fadda, Abeer ; Butt, Fiza ; Tomei, Sara...
BMC Medical Genetics.  17 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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12

Comparison of the antiplatelet effect of clopidogrel hydrog..:

Hamilos, Michalis ; Saloustros, Ilias ; Skalidis, Emmanuel...
Journal of Thrombosis and Thrombolysis.  40 (2015)  3 - p. 288-293 , 2015
Link: https://doi.org/10.1007/..
 
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13

Mutations in zinc finger 407 [ZNF407] cause a unique autoso..:

Kambouris, Marios ; Maroun, Rachid C ; Ben-Omran, Tawfeg...
Orphanet Journal of Rare Diseases.  9 (2014)  1 - p. , 2014
Link: https://doi.org/10.1186/..
 
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14

Severe clinical presentation in monozygotic twins with 10p1..:

Vargiami, Euthymia ; Ververi, Athina ; Kyriazi, Maria...
American Journal of Medical Genetics Part A.  164 (2013)  3 - p. 764-768 , 2013
Link: https://doi.org/10.1002/..
 
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15

Predictive genomics profiling in athletics and sports perfo..:

Kambouris, Marios
British Journal of Sports Medicine.  45 (2011)  2 - p. e2.21-e2 , 2011
Link: https://doi.org/10.1136/..
 
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